"Laboratory of Medical Genetics, National & Kapodistrian University of - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256571	NM_000377.3(WAS):c.753del (p.Trp252fs)	WAS (W252fs)	Deletion (frameshift variant)	Thrombocytopenia 1	GLikely pathogenic
Select item 574368	NM_000377.3(WAS):c.1001del (p.Gly334fs)	WAS (G334fs)	Deletion (frameshift variant)	Wiskott-Aldrich syndrome +2 more	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	EOLA1, EOLA2 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic

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